Canonical Allele Identifier: CA2918485
Gene: SGCB HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.52033425A>T
GRCh37 chr4:g.52899591A>T
gnomAD v2:
4:52899591 A / T
gnomAD v3:
4:52033425 A / T
gnomAD v4:
chr4-52033425-A-T
Joint Max Group AF 0.00784754 (EAS)
Genomes Max Group AF 0.00717505 (EAS)
Exomes Max Group AF 0.00771588 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033425A>T , CM000666.2:g.52033425A>T GRCh38
NC_000004.11:g.52899591A>T , CM000666.1:g.52899591A>T GRCh37
NC_000004.10:g.52594348A>T NCBI36
NG_008891.1:g.9895T>A , LRG_204:g.9895T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.243+6T>A MANE Select ENSP00000370839.6:n.243+6T>A
ENST00000381431.9:c.243+6T>A ENSP00000370839.5:n.243+6T>A
ENST00000506357.5:c.229+6T>A
ENST00000514133.1:c.210+6T>A ENSP00000425818.1:n.210+6T>A
NM_000232.4:c.243+6T>A , LRG_204t1:c.243+6T>A NP_000223.1:n.243+6T>A
XM_006714049.2:c.-165+6T>A XP_006714112.1:n.-165+6T>A
XM_011534403.1:c.34-3562T>A XP_011532705.1:n.34-3562T>A
XM_011534404.1:c.-142+6T>A XP_011532706.1:n.-142+6T>A
NM_000232.5:c.243+6T>A MANE Select NP_000223.1:n.243+6T>A
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